SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.
We report on a young Mennonite child born with short stature, atresia of the external auditory canal, mandibular hypoplasia, and skeletal anomalies. The skeletal defects consist of bilateral humeral hypoplasia, delayed ossification of the pubic rami, and the previously unreported anomaly of humeroscapular synostosis. This girl is the product of a consanguineous mating. This phenotype is unique and does not match that of any previously described condition.
Lemire
E G
EG
Department of Pediatrics and Child Health, University of Manitoba and Health Sciences Centre, Winnipeg, Canada.
Hildes-Ripstein
G E
GE
Reed
M H
MH
Chudley
A E
AE
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D004424:Ear Canal / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008334:Mandible / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome